リ・フラウメニ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000546.5(TP53):c.2588dup	TP53	Pathogenic	17	7571520	7571521	T	TC	criteria provided, single submitter	ClinGen:CA645372603
Deletion	NM_000546.6(TP53):c.1125del (p.Gln375fs)	TP53	Pathogenic	17	7572984	7572984	AC	A	criteria provided, single submitter	ClinGen:CA000041
Deletion	NC_000017.11:g.(?_7668402)_(7669690_?)del	TP53	Likely pathogenic	17	7571720	7573008	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.1101-1G>A	TP53	Pathogenic/Likely pathogenic	17	7573009	7573009	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580902
single nucleotide variant	NM_000546.6(TP53):c.1101-2A>G	TP53	Pathogenic/Likely pathogenic	17	7573010	7573010	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000038
Deletion	NM_000546.6(TP53):c.1083del (p.Ser362fs)	TP53	Pathogenic	17	7573944	7573944	TC	T	criteria provided, multiple submitters, no conflicts	OMIM:191170.0043
Deletion	NM_000546.6(TP53):c.1077del (p.Ser362fs)	TP53	Pathogenic	17	7573950	7573950	CT	C	criteria provided, single submitter	OMIM:191170.0044
single nucleotide variant	NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)	TP53	Likely pathogenic	17	7573967	7573967	G	A	criteria provided, single submitter	ClinGen:CA397832178
Deletion	NM_000546.6(TP53):c.1049_1050del (p.Leu350fs)	TP53	Pathogenic	17	7573977	7573978	TGA	T	criteria provided, single submitter	ClinGen:CA645369694
single nucleotide variant	NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)	TP53	Pathogenic	17	7573982	7573982	C	A	criteria provided, multiple submitters, no conflicts	-